Gene Expression Profiling Tests for Early-Stage Invasive Breast Cancer: A Health Technology Assessment

• Published in: Ontario health technology assessment series 2020, Vol.20 (10), p.1-234
• Format: Article
• Language: English
• Subjects: Age Factors; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cost-Benefit Analysis; Gene Expression Profiling - economics; Gene Expression Profiling - methods; Gene Expression Profiling - standards; Humans; Lymphatic Metastasis - pathology; Menopause - physiology; Neoplasm Invasiveness; Neoplasm Staging; Quality-Adjusted Life Years; Sensitivity and Specificity; Technology Assessment, Biomedical - methods
• ISSN: 1915-7398; 1915-7398

Breast cancer is a disease in which cells in the breast grow out of control. They often form a tumour that may be seen on an x-ray or felt as a lump.Gene expression profiling (GEP) tests are intended to help predict the risk of metastasis (spread of the cancer to other parts of the body) and to identify people who will most likely benefit from chemotherapy. We conducted a health technology assessment of four GEP tests (EndoPredict, MammaPrint, Oncotype DX, and Prosigna) for people with early-stage invasive breast cancer, which included an evaluation of effectiveness, safety, cost effectiveness, the budget impact of publicly funding GEP tests, and patient preferences and values. We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using either the Cochrane Risk of Bias tool, Prediction model Risk Of Bias ASsessment Tool (PROBAST), or Risk of Bias Assessment tool for Non-randomized Studies (RoBANS), depending on the type of study and outcome of interest, and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We also performed a literature survey of the quantitative evidence of preferences and values of patients and providers for GEP tests.We performed an economic evidence review to identify published studies assessing the cost-effectiveness of each of the four GEP tests compared with usual care or with one another for people with early-stage invasive breast cancer. We adapted a decision-analytic model to compare the costs and outcomes of care that includes a GEP test with usual care without a GEP test over a lifetime horizon. We also estimated the budget impact of publicly funding GEP tests to be conducted in Ontario, compared with funding tests conducted through the out-of-country program and compared with no funding of tests in any location.To contextualize the potential value of GEP tests, we spoke with people who have been diagnosed with early-stage invasive breast cancer. We included 68 studies in the clinical evidence review. Within the lymph-node-negative (LN-) population, GEP tests can prognosticate the risk of distant recurrence (GRADE: Moderate) and may predict chemotherapy benefit (GRADE: Low). The evidence for prognostic and predictive ability (ability to indicate the risk of an outcome and ability to predict who will benefit from chemotherapy, respectively) was lower for the lym